A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2026812



Internal ID17507110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:65103541..65106355hg38UCSC Ensembl
Innerchr15:65395879..65398693hg19UCSC Ensembl
Innerchr15:63182932..63185746hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg382815
hg192815
hg182815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984085
Supporting Variants
SamplesHGDP01029
Known GenesUBAP1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2026812
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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